ClinVar Miner

Submissions for variant NM_005333.5(HCCS):c.216G>C (p.Ala72=)

gnomAD frequency: 0.00106  dbSNP: rs144152239
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153345 SCV000202829 benign not specified 2013-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000721029 SCV000851913 likely benign History of neurodevelopmental disorder 2013-05-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000952267 SCV001098757 benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000153345 SCV001918046 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000153345 SCV001964953 benign not specified no assertion criteria provided clinical testing

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