ClinVar Miner

Submissions for variant NM_002768.5(CHMP1A):c.204C>T (p.Arg68=)

gnomAD frequency: 0.00012  dbSNP: rs199628110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000909755 SCV000721218 likely benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Invitae RCV000909755 SCV001054577 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335648 SCV001528839 uncertain significance Pontocerebellar hypoplasia type 8 2018-07-19 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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