ClinVar Miner

Submissions for variant NM_019851.3(FGF20):c.144G>C (p.Ala48=)

gnomAD frequency: 0.81216  dbSNP: rs10448135
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001642138 SCV001861105 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702945 SCV001933444 benign Renal hypodysplasia/aplasia 2 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001642138 SCV002340825 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001642138 SCV005265896 benign not provided criteria provided, single submitter not provided

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