ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.593-4G>A

gnomAD frequency: 0.00003  dbSNP: rs876657534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218298 SCV000270553 likely benign not specified 2015-02-26 criteria provided, single submitter clinical testing c.593-4G>A in intron 6 of MYO7A: This variant is not expected to have clinical significance because the -4 position in the 3' splice site is not an invariant position within the splice consensus sequence and computational splice models do not predict an impact to splicing. In addition, many mammals have an adenine (A ) at this nucleotide position.
Counsyl RCV000672267 SCV000797358 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001429291 SCV001632005 likely benign not provided 2023-11-13 criteria provided, single submitter clinical testing

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