ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7905C>T (p.Pro2635=)

gnomAD frequency: 0.00004  dbSNP: rs768623821
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 RCV001459504 SCV001663344 likely benign Nemaline myopathy 2 2023-10-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809619 SCV005436414 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing NEB: BP4, BP7

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