ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.531C>T (p.Tyr177=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002746575 SCV003012182 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2023-02-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546742 SCV005041170 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing POMGNT2: BP4, BP7

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