ClinVar Miner

Submissions for variant NM_025082.4(CENPT):c.1187-32A>G

gnomAD frequency: 0.58779  dbSNP: rs3743733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578983 SCV001806365 benign Short stature and microcephaly with genital anomalies 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710324 SCV005251967 benign not provided criteria provided, single submitter not provided

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