ClinVar Miner

Submissions for variant NM_020971.3(SPTBN4):c.758G>C (p.Gly253Ala)

gnomAD frequency: 0.00001  dbSNP: rs1568776196
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001785220 SCV002025757 uncertain significance Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 2020-05-08 criteria provided, single submitter clinical testing

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