ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4667_4668delinsTA (p.Pro1556Leu)

dbSNP: rs1956921681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034420 SCV001197770 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004726800 SCV005340665 uncertain significance MYO7A-related disorder 2024-08-19 no assertion criteria provided clinical testing The MYO7A c.4667_4668delinsTA variant is predicted to result in an in-frame deletion and insertion. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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