ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.381G>A (p.Pro127=)

gnomAD frequency: 0.01717  dbSNP: rs34454351
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173198 SCV000224292 benign not specified 2014-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000957694 SCV001104509 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505245 SCV002805330 benign Retinitis pigmentosa 30 2022-05-13 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888612 SCV004706243 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV000957694 SCV005253920 benign not provided criteria provided, single submitter not provided

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