ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12596C>T (p.Pro4199Leu)

gnomAD frequency: 0.00005  dbSNP: rs1365594299
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 RCV000553436 SCV000640531 uncertain significance Nemaline myopathy 2 2016-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000553436 SCV002077040 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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