ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.1341G>A (p.Leu447=)

gnomAD frequency: 0.00456  dbSNP: rs61734562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350627 SCV000462698 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398421 SCV000462699 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000945421 SCV001091433 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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