ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn)

gnomAD frequency: 0.00001  dbSNP: rs1453271838
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004597852 SCV005093041 likely pathogenic not provided 2024-07-01 criteria provided, single submitter clinical testing FGFR3: PM1, PM2, PP3, PS4:Supporting
OMIM RCV004559335 SCV000778392 pathogenic Lacrimoauriculodentodigital syndrome 2 2023-12-20 no assertion criteria provided literature only

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