ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1252G>C (p.Gly418Arg)

dbSNP: rs1447139472
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Eye Disorders lab, UCL Institute of Ophthalmology RCV001250772 SCV001426186 likely pathogenic Retinitis pigmentosa 73 2020-07-01 no assertion criteria provided clinical testing

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