ClinVar Miner

Submissions for variant NM_001363540.2(DOCK4):c.1258G>A (p.Val420Met)

gnomAD frequency: 0.00003  dbSNP: rs768165193
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003388875 SCV004100737 uncertain significance Neurodevelopmental disorder 2024-02-12 criteria provided, single submitter clinical testing Criteria applied: PP3, PS3_MOD, PM1_SUP This variant was identified together with the variant NM_014705.4:c.3125T>C, p.Val1042Ala

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