ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4650G>A (p.Pro1550=) (rs751242817)

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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 RCV000213960 SCV000270552 likely benign not specified 2015-02-12 criteria provided, single submitter clinical testing p.Pro1550Pro in exon 35 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. It has been identified in 2/30922 of Europ ean (non-Finnish) chromosomes and 1/4450 of African chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org).

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