ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5169-6C>T (rs768594224)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726176 SCV000342657 uncertain significance not provided 2016-06-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000403454 SCV000731935 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing c.5169-6C>T in intron 37 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 1/7730 South As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs768594224).
Invitae RCV000726176 SCV001039797 likely benign not provided 2018-01-24 criteria provided, single submitter clinical testing

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