ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6726-7C>T

gnomAD frequency: 0.00003  dbSNP: rs886782734
Minimum review status: Collection method:
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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
Invitae RCV001417130 SCV001619327 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279254 SCV001466337 uncertain significance Autosomal recessive retinitis pigmentosa 2020-08-27 no assertion criteria provided clinical testing

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