ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.6692C>A (p.Pro2231His)

gnomAD frequency: 0.01350  dbSNP: rs183551699
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000956047 SCV001102789 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479105 SCV002795353 likely benign Myopathy, centronuclear, 5 2021-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000956047 SCV005246655 benign not provided criteria provided, single submitter not provided

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