ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn)

gnomAD frequency: 0.00992  dbSNP: rs62621449
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000378173 SCV000456324 benign Frank-Ter Haar syndrome 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000441194 SCV000511393 benign not provided 2017-01-09 criteria provided, single submitter clinical testing
Invitae RCV000441194 SCV001105713 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000441194 SCV001874920 likely benign not provided 2023-08-25 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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