ClinVar Miner

Submissions for variant NM_004279.3(PMPCB):c.150A>C (p.Gln50His)

dbSNP: rs762743960
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332396 SCV001524717 uncertain significance Multiple mitochondrial dysfunctions syndrome 6 2019-07-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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