ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile)

gnomAD frequency: 0.00002  dbSNP: rs782647620
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703031 SCV000831911 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437402 SCV004165908 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ATP7A: BP4
Natera, Inc. RCV001830553 SCV002089032 likely benign Menkes kinky-hair syndrome 2019-10-28 no assertion criteria provided clinical testing

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