ClinVar Miner

Submissions for variant NM_018897.3(DNAH7):c.739G>T (p.Ala247Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004220996 SCV003723632 uncertain significance not specified 2024-11-10 criteria provided, single submitter clinical testing The c.739G>T (p.A247S) alteration is located in exon 8 (coding exon 8) of the DNAH7 gene. This alteration results from a G to T substitution at nucleotide position 739, causing the alanine (A) at amino acid position 247 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003435958 SCV004148331 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing DNAH7: BP4

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