ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5581G>A (p.Gly1861Arg)

gnomAD frequency: 0.00003  dbSNP: rs1413371715
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822408 SCV000963209 likely benign Nemaline myopathy 2 2023-08-10 criteria provided, single submitter clinical testing

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