ClinVar Miner

Submissions for variant NM_001164665.2(KIAA1549):c.4959G>A (p.Gln1653=)

gnomAD frequency: 0.00004  dbSNP: rs184005645
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001432516 SCV001635287 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888139 SCV004704819 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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