ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) (rs61900036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155379 SCV000205066 benign not specified 2017-09-22 criteria provided, single submitter clinical testing p.Pro1615Pro 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 0.38% (95/24636) of Finnish chromosomes and 0.2% (237/120408) of Non-Finnish European chromosome s including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org; dbSNP rs61900036).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155379 SCV000344110 likely benign not specified 2016-08-01 criteria provided, single submitter clinical testing

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