ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.94+20C>T

gnomAD frequency: 0.03841  dbSNP: rs17124616
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001518796 SCV001727558 benign Leber congenital amaurosis 3 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715460 SCV005297245 benign not provided criteria provided, single submitter not provided

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