ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.5743A>G (p.Ile1915Val)

gnomAD frequency: 0.00001  dbSNP: rs1216879928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000735361 SCV000854515 uncertain significance Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Abnormal autonomic nervous system physiology; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormal upper limb bone morphology criteria provided, single submitter clinical testing

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