ClinVar Miner

Submissions for variant NM_018946.4(NANS):c.153T>C (p.Ala51=)

gnomAD frequency: 0.60644  dbSNP: rs13049
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001652644 SCV001865797 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779285 SCV002016004 benign Spondyloepimetaphyseal dysplasia, Genevieve type 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001652644 SCV002341180 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001652644 SCV005265153 benign not provided criteria provided, single submitter not provided

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