ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.810C>T (p.Tyr270=)

gnomAD frequency: 0.00001  dbSNP: rs782805395
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001476266 SCV001680472 likely benign not provided 2022-06-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888196 SCV004706259 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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