ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.3564T>C (p.Pro1188=)

dbSNP: rs10167209
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720966 SCV001947329 benign not provided 2019-04-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810297 SCV002057591 benign Myopathy, centronuclear, 5 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001720966 SCV002335581 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001720966 SCV005246637 benign not provided criteria provided, single submitter not provided

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