ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.1092C>T (p.Ile364=)

gnomAD frequency: 0.00195  dbSNP: rs188142101
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177113 SCV000228940 likely benign not specified 2015-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000949826 SCV001096098 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492772 SCV002800989 likely benign Retinitis pigmentosa 30 2021-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000949826 SCV004144634 benign not provided 2022-08-01 criteria provided, single submitter clinical testing FSCN2: BS1, BS2

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