ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.105C>T (p.Ser35=)

gnomAD frequency: 0.29312  dbSNP: rs17074773
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246033 SCV000305843 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351031 SCV000456346 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.
Invitae RCV001519844 SCV001728790 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001519844 SCV001832749 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000351031 SCV002055196 benign Frank-Ter Haar syndrome 2021-07-15 criteria provided, single submitter clinical testing

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