ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.9156T>C (p.Asn3052=)

dbSNP: rs1768354975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002537794 SCV003267139 likely benign not provided 2021-12-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278442 SCV001465455 uncertain significance Autosomal recessive retinitis pigmentosa 2020-08-15 no assertion criteria provided clinical testing

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