ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.372G>A (p.Pro124=)

gnomAD frequency: 0.00010  dbSNP: rs561598022
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000917549 SCV001062832 likely benign not provided 2024-08-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276066 SCV001461896 likely benign Enhanced S-cone syndrome 2020-04-17 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701479 SCV001920908 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000917549 SCV001971778 likely benign not provided no assertion criteria provided clinical testing

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