ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12490C>T (p.Pro4164Ser)

dbSNP: rs1553877565
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 RCV000550062 SCV000640528 uncertain significance Nemaline myopathy 2 2017-04-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000550062 SCV001461922 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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