ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)

gnomAD frequency: 0.00156  dbSNP: rs202196322
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206601 SCV000261864 likely benign Bardet-Biedl syndrome 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094650 SCV000431464 uncertain significance Bardet-Biedl syndrome 15 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics, Fulgent Genetics RCV000765695 SCV000897037 uncertain significance Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV001706202 SCV003823697 uncertain significance not provided 2019-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001706202 SCV004023491 uncertain significance not provided 2023-02-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
CeGaT Center for Human Genetics Tuebingen RCV001706202 SCV004154919 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing WDPCP: BS2
Clinical Genetics, Academic Medical Center RCV001706202 SCV001922674 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706202 SCV001930686 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706202 SCV001965397 likely benign not provided no assertion criteria provided clinical testing

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