ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4153-8C>T (rs143216377)

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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 RCV000155233 SCV000204919 likely benign not specified 2014-08-19 criteria provided, single submitter clinical testing 4153-8C>T in intron 31 of MYO7A: This variant is not expected to have clinical s ignificance because a C>T change at this position does not diverge from the spli ce consensus sequence and is therefore unlikely to impact splicing. It has been identified in 0.12% (10/8348) of European American chromosomes and 0.074% (3/403 6) of African American chromosomes by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs143216377).
Invitae RCV000904231 SCV001048741 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing

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