ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13717C>T (p.His4573Tyr)

dbSNP: rs1553862206
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 RCV000641419 SCV000763060 uncertain significance Nemaline myopathy 2 2018-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000641419 SCV002077019 uncertain significance Nemaline myopathy 2 2021-10-15 no assertion criteria provided clinical testing

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