ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.5743A>C (p.Ser1915Arg)

gnomAD frequency: 0.00004  dbSNP: rs199549168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330139 SCV001521746 uncertain significance Myopathy, centronuclear, 5 2020-01-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697111 SCV005198337 uncertain significance not provided 2023-09-07 criteria provided, single submitter clinical testing

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