ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6033C>T (p.Pro2011=)

gnomAD frequency: 0.00001  dbSNP: rs773482640
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513600 SCV000608969 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078473 SCV001077585 likely benign Nemaline myopathy 2 2024-01-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000513600 SCV003812234 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing

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