ClinVar Miner

Submissions for variant NM_001291746.2(REL):c.1314C>T (p.Val438=)

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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 RCV003565884 SCV004313141 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003565884 SCV005909678 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing REL: BP4, BP7

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