ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.7611T>C (p.Leu2537=)

gnomAD frequency: 0.07111  dbSNP: rs3790649
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578858 SCV001806207 benign Stromme syndrome 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001685533 SCV001899188 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001685533 SCV002340120 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685533 SCV005287562 benign not provided criteria provided, single submitter not provided

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