ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.6566C>T (p.Pro2189Leu)

gnomAD frequency: 0.25298  dbSNP: rs10755037
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000406422 SCV000340974 benign not specified 2016-03-30 criteria provided, single submitter clinical testing
GeneDx RCV001675771 SCV001893350 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808738 SCV002057592 benign Myopathy, centronuclear, 5 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001675771 SCV002403575 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675771 SCV005246654 benign not provided criteria provided, single submitter not provided

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