ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn)

gnomAD frequency: 0.00001  dbSNP: rs534646949
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791754 SCV000931015 benign Nemaline myopathy 2 2023-11-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130038 SCV003809592 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000791754 SCV001455505 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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