ClinVar Miner

Submissions for variant NM_001690.4(ATP6V1A):c.1337C>T (p.Pro446Leu)

dbSNP: rs2108040667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002214298 SCV002496847 uncertain significance not provided 2022-01-01 criteria provided, single submitter clinical testing
New York Genome Center RCV002227580 SCV002506944 uncertain significance Developmental and epileptic encephalopathy 93 2021-04-16 criteria provided, single submitter clinical testing

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