ClinVar Miner

Submissions for variant NM_001366521.1(ATP2B1):c.3110C>G (p.Ser1037Ter)

dbSNP: rs2540763693
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV003389188 SCV004101193 likely pathogenic Neurodevelopmental disorder 2022-08-29 criteria provided, single submitter clinical testing

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