ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13737C>T (p.Pro4579=)

dbSNP: rs1578801445
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 RCV000872502 SCV001014321 likely benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000872502 SCV001456735 likely benign Nemaline myopathy 2 2020-06-06 no assertion criteria provided clinical testing

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