ClinVar Miner

Submissions for variant NM_001379110.1(SLC9A6):c.886-1C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004776904 SCV005391634 likely pathogenic not provided 2024-03-20 criteria provided, single submitter clinical testing Reported heterozygous in a female from a study of neonates in the NICU, but no clinical or segregation information was provided (PMID: 34671977); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34671977)

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