ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.842T>C (p.Leu281Ser)

dbSNP: rs796052007
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186059 SCV000239023 pathogenic not provided 2013-08-26 criteria provided, single submitter clinical testing The L281S missense mutation has been reported previously in association with MMA (Worgan et al., 2006). The variant is found in MUT panel(s).

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