ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.4675G>A (p.Glu1559Lys)

gnomAD frequency: 0.00153  dbSNP: rs199965589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665376 SCV001872755 uncertain significance not provided 2023-06-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in at least one homozygous clinically unaffected adult relative of an individual referred for genetic testing at GeneDx; This variant is associated with the following publications: (PMID: 31144483)
Breakthrough Genomics, Breakthrough Genomics RCV001665376 SCV005195786 uncertain significance not provided criteria provided, single submitter not provided

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