ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3930C>G (p.Ser1310Arg)

dbSNP: rs769509460
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003542591 SCV004244632 uncertain significance not provided 2023-10-20 criteria provided, single submitter clinical testing PM2

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