ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1386C>T (p.Tyr462=)

gnomAD frequency: 0.00004  dbSNP: rs376911383
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876821 SCV001019444 likely benign Nemaline myopathy 2 2024-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000876821 SCV001457262 likely benign Nemaline myopathy 2 2020-04-27 no assertion criteria provided clinical testing

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