ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.4615G>A (p.Asp1539Asn)

gnomAD frequency: 0.00079  dbSNP: rs201473797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291756 SCV001480372 uncertain significance Microcephalic primordial dwarfism due to RTTN deficiency 2020-05-14 criteria provided, single submitter clinical testing
GeneDx RCV001559379 SCV001781593 uncertain significance not provided 2022-03-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001559379 SCV003286560 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing

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