ClinVar Miner

Submissions for variant NM_173543.3(DZIP1L):c.883C>T (p.Leu295=)

gnomAD frequency: 0.00896  dbSNP: rs113935158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889956 SCV001033673 benign not provided 2024-12-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000889956 SCV005302382 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003968108 SCV004793664 benign DZIP1L-related disorder 2019-05-29 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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