ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.7067C>T (p.Ala2356Val)

gnomAD frequency: 0.07410  dbSNP: rs3748696
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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 RCV001578854 SCV001806203 benign Stromme syndrome 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001597317 SCV001831238 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001597317 SCV002446344 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597317 SCV005287558 benign not provided criteria provided, single submitter not provided

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