ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.169G>A (p.Val57Met)

gnomAD frequency: 0.00163  dbSNP: rs61735064
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000121072 SCV000302622 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000121072 SCV000340036 likely benign not specified 2016-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001650979 SCV000640364 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001650979 SCV001864646 benign not provided 2019-04-18 criteria provided, single submitter clinical testing
ITMI RCV000121072 SCV000085240 not provided not specified 2013-09-19 no assertion provided reference population

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