ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4254C>T (p.Pro1418=) (rs548434591)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220169 SCV000270551 likely benign not specified 2015-05-14 criteria provided, single submitter clinical testing p.Pro1418Pro in exon 32 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. This variant has been identified in 4/4901 8 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org).

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