ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.234C>T (p.Ala78=)

gnomAD frequency: 0.00002  dbSNP: rs749197310
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002085228 SCV002376929 likely benign Arthrogryposis, distal, type 1A 2021-09-29 criteria provided, single submitter clinical testing

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