ClinVar Miner

Submissions for variant NM_001164665.2(KIAA1549):c.1090A>G (p.Thr364Ala)

dbSNP: rs59985563
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515798 SCV001723954 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001515798 SCV001915402 benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730772 SCV001981031 benign Retinitis pigmentosa 86 2021-08-19 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888262 SCV004704888 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001515798 SCV005270202 benign not provided criteria provided, single submitter not provided

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