ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.1061C>T (p.Ala354Val)

gnomAD frequency: 0.00308  dbSNP: rs146896700
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000968775 SCV001116249 benign Multiple congenital anomalies-hypotonia-seizures syndrome 3 2024-12-17 criteria provided, single submitter clinical testing
GeneDx RCV001702758 SCV001981713 likely benign not provided 2021-03-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001702758 SCV005880004 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702758 SCV001929624 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702758 SCV001968047 likely benign not provided no assertion criteria provided clinical testing

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