ClinVar Miner

Submissions for variant NM_001135146.2(SLC39A8):c.81A>C (p.Leu27=)

gnomAD frequency: 0.00713  dbSNP: rs1870953
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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 RCV000892859 SCV001036763 benign not provided 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000892859 SCV002575263 likely benign not provided 2022-02-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV000892859 SCV005301500 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003920789 SCV004734938 benign SLC39A8-related disorder 2019-07-16 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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