ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.633G>A (p.Thr211=)

gnomAD frequency: 0.00165  dbSNP: rs75815349
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884212 SCV001027570 benign not provided 2024-01-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000660 SCV001157687 benign Retinitis pigmentosa 30 2023-11-01 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890009 SCV004706253 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV000884212 SCV005253923 benign not provided criteria provided, single submitter not provided

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