ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13533C>T (p.Ser4511=)

dbSNP: rs1168966918
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560444 SCV000640566 likely benign Nemaline myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001584277 SCV001818937 likely benign not provided 2021-04-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000560444 SCV001455273 likely benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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