ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.186C>T (p.Ile62=) (rs34403480)

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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 RCV000036888 SCV000060543 likely benign not specified 2011-01-20 criteria provided, single submitter clinical testing Ile62Ile in exon 2 of ACTN2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located near a splice junction. Furthermore, it has been detected in 1/70 Black chromosomes (d bSNP rs34403480).

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