ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.675T>C (p.Val225=)

gnomAD frequency: 0.00193  dbSNP: rs147475258
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974789 SCV001122654 benign Multiple congenital anomalies-hypotonia-seizures syndrome 3 2024-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001538577 SCV001756250 likely benign not provided 2019-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001538577 SCV002064046 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing PIGT: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001538577 SCV005208756 likely benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001538577 SCV005878194 benign not provided 2024-07-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001538577 SCV001930951 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001538577 SCV001972603 likely benign not provided no assertion criteria provided clinical testing

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