ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9744T>C (p.Asn3248=)

gnomAD frequency: 0.00001  dbSNP: rs1386728979
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002108382 SCV002439517 likely benign Nemaline myopathy 2 2023-11-05 criteria provided, single submitter clinical testing

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